Canonical Allele Identifier: PA916000719
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252060
ClinVar RCV Id: RCV000238442

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ala612Ser
CA10585640
NM_001195798.2:c.1834G>T